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The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.

Park SJ, Yoon CS, Park HW, Choi JR, Chung JS, Lee KA - J. Korean Med. Sci. (2009)

Bottom Line: The patient's mother had a long-standing history of mild limb pain.Under the impression of CED on radiographic studies, we performed mutation analysis.A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.

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Family pedigree of this study. The arrow indicates the proband.
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Figure 1: Family pedigree of this study. The arrow indicates the proband.

Mentions: A 19-yr-old Korean male with a history of abnormal gait since the age of 2 was referred for molecular genetic testing. His symptoms included wide base waddling gait, proximal muscle weakness, pain in the extremities, and easy fatigability. He had no history of trauma, infection, or systemic illness. Physical examination showed no abnormalities in his reflexes and he was able to walk independently. The 53-yr-old mother of the proband had only mild limb pain with an onset after the fourth decade that subsided with steroid treatment but she had never previously received a conclusive diagnosis despite multiple visits to several hospitals. Other family members, including the proband's father and 2 younger brothers, did not show any symptoms of muscle weakness (Fig. 1).


The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.

Park SJ, Yoon CS, Park HW, Choi JR, Chung JS, Lee KA - J. Korean Med. Sci. (2009)

Family pedigree of this study. The arrow indicates the proband.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2719210&req=5

Figure 1: Family pedigree of this study. The arrow indicates the proband.
Mentions: A 19-yr-old Korean male with a history of abnormal gait since the age of 2 was referred for molecular genetic testing. His symptoms included wide base waddling gait, proximal muscle weakness, pain in the extremities, and easy fatigability. He had no history of trauma, infection, or systemic illness. Physical examination showed no abnormalities in his reflexes and he was able to walk independently. The 53-yr-old mother of the proband had only mild limb pain with an onset after the fourth decade that subsided with steroid treatment but she had never previously received a conclusive diagnosis despite multiple visits to several hospitals. Other family members, including the proband's father and 2 younger brothers, did not show any symptoms of muscle weakness (Fig. 1).

Bottom Line: The patient's mother had a long-standing history of mild limb pain.Under the impression of CED on radiographic studies, we performed mutation analysis.A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.

Show MeSH
Related in: MedlinePlus